"A" refers to no, "Myo" to muscle, and "Trophic" to nourishment meaning "No muscle nourishment. " When a muscle gets no nourishment, it "atrophies" or wastes away. The word "Lateral" are the areas in a person's spinal cord where the portions of the nerve cells that signal and control the muscles are located. ALS occurs more in men than in women by a factor of between 1.2 and 1.5. (2)
Collagen matrix abnormalities also affect bone mineral phase and leads to increased bone fragility and deformity. Collagen production is examined in skin fibroblasts in most studies. However, there is not enough information about the precise incidence of OI (Martin and Shapiro, 2007) In recent years, defects in genes encoding the parts of the P3H1-CRTAP-CynB complex (collagen prolyl 3-hydroxylation complex), causes few recessive forms of OI (Sergei and Elena, 2013). Also, mutations in SERPIN H1 which encodes collagen chaperon HSP47; FKBP10 and PLOD2 which encodes foldase and lysyl hydroxylase 2 respectively, needed for forming mature cross-links in bone collagen have been identified.
Motomura M, Lang B, Johnston I, Palace J, Vincent A, Newsom-Davis J. Incidence of serum anti-P/Q-type and anti-N-type calcium channel autoantibodies in the Lambert-Eaton myasthenic syndrome. Journal of the Neurological Sciences. 1997;147(1):35-42. 7. Catterall WA.
In 1872 George Huntington, a young medical doctor discovered Huntington’s Disease as an inherited disorder. He published a paper On Chorea, better known today as Huntington’s Chorea. Huntington’s Chorea is defined as involuntary erratic muscle contractions. Dr. Huntington’s research helped pave the way for future doctors. In 1993 a group of scientists discovered the mutated gene responsible for the cause of Huntington’s Disease (Roos).
Erika Oregon & Christian Torres Mr. Bagdasarian 28 November 2015 Biology 121 Research Paper Goiter The disease we were assigned is the condition that results in a Goiter. A goiter can be defined as the swelling of the neck caused by an enlargement of the Thyroid gland. This condition is quite overt as the swelling is obviously visible at the base of the neck.
Causes Although it is not contagious, no one to this date knows what causes Guillain-Barre syndrome, as it can affect one person and not another. One thing is known for sure, however, and it is that the body’s immune system will begin to destroy itself, known as autoimmune diseases. Mainly, the cells in the immune system
Marfan syndrome is not the only genetic disorder that affects connective tissue and has conditions including Thoracic Aortic Aneurysm. Marfan syndrome is a genetic disorder that messes with the connective tissue throughout the body (Marfan Foundation) and was discovered by Antoine Marfan in France back in 1896 (KidsHealth). Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently.
Adie syndrome, also called Holmes-Adie syndrome or Adie 's tonic pupil, is a rare neurological disorder, which affects the autonomic nervous system and the eye’s pupil (the opening in the centre of the eye). In most patients, the pupil of the eye is larger than normal (dilated) and react slowly in response to direct light. Poor or absent tendon reflexes are also linked to this disorder. Causes The exact cause of Adie 's pupil has been unknown.
Huntington 's disease is a genetically inherited disease that causes the breakdown of nerve cells in the brain. Huntington 's disease has a big impact on a person 's abilities. It usually results in movement, thinking, and psychiatric disorders. This condition is inherited in an autosomal dominant pattern which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.
Carle and Rattone first discovered the etiology of tetanus in 1884 by injecting animals with the pus of infected humans. It was later discovered that tetanus antitoxins could neutralize the disease. In 1924, the first vaccine was produced by P. Descombey to combat tetanus caused by wounds during World War II (4). Today, pharmaceutical company GlaxoSmithKline manufactures tetanus vaccines
Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve
The copper is normally absorbed at first, but it is not incorporated into caeruloplasmin and the excretion of copper within bile is reduced. An increase in the concentration of copper found within the cells of the liver causes excess copper to flow into the bloodstream; this increases the concentration of copper found within the plasma. Having the increased concentration of copper leads to a decrease of copper excreted through feces, and an increase in the concentration of urine. Wilson’s disease often proves difficult to diagnosis at first because its symptoms mimic those of other hepatic disorders, and don’t present themselves until adolescence (around 12-23 years of age). For instance, the accumulation of copper in the brain may result in neurological/psychiatric symptoms.
In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern. The parents of an individual with the autosomal recessive form of this condition each have one copy of the mutated gene and are
In A-T the ATM gene is disrupted in the making of proteins that regulate cell growth. These mutated genes do not repair DNA damage instead they allow for these defects to be spread into other cells. This allows for uncontrolled division and growth of cells which can lead to cancerous tumors. These mutations also allow for unwanted cell death which leads to the loss of important cells in the brain involved with coordination. People who are carriers of a mutated ATM gene are likely to develop one of the following cancers: breast, stomach, bladder, pancreas, lung, and
What is Cystic Fibrosis? Cystic Fibrosis, also called CF, is a genetic disease. This disease is caused when one has inherited two copies of a faulty gene, one coming from each parent; and it affects mainly the lungs. This disease is usually detected at birth, and is currently not curable.